NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) AND Inborn genetic diseases

Clinical significance:Likely pathogenic (Last evaluated: Nov 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001267229.1

Allele description [Variation Report for NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)]

NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)

Gene:
G6PC1:glucose-6-phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)
HGVS:
  • NC_000017.11:g.42904026G>A
  • NG_011808.1:g.8229G>A
  • NM_000151.4:c.326G>AMANE SELECT
  • NM_001270397.2:c.326G>A
  • NP_000142.2:p.Cys109Tyr
  • NP_001257326.1:p.Cys109Tyr
  • LRG_147t1:c.326G>A
  • LRG_147:g.8229G>A
  • NC_000017.10:g.41056043G>A
  • NM_000151.2:c.326G>A
  • NM_000151.3:c.326G>A
Protein change:
C109Y
Links:
dbSNP: rs886052955
NCBI 1000 Genomes Browser:
rs886052955
Molecular consequence:
  • NM_000151.4:c.326G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270397.2:c.326G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001445410Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 20, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asian/Chinesegermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

Shieh JJ, Terzioglu M, Hiraiwa H, Marsh J, Pan CJ, Chen LY, Chou JY.

J Biol Chem. 2002 Feb 15;277(7):5047-53. Epub 2001 Dec 5.

PubMed [citation]
PMID:
11739393

Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Chou JY, Mansfield BC.

Hum Mutat. 2008 Jul;29(7):921-30. doi: 10.1002/humu.20772. Review.

PubMed [citation]
PMID:
18449899
PMCID:
PMC2475600

Details of each submission

From Ambry Genetics, SCV001445410.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian/Chinese1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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